Á lódáil...
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
BACKGROUND: Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute...
Na minha lista:
| Foilsithe in: | BMC Pediatr |
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| Main Authors: | , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2018
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6025733/ https://ncbi.nlm.nih.gov/pubmed/29958533 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1185-9 |
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